Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3

BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a group of rare hereditary diseases by the combination of early onset steroid-resistant nephrotic syndrome (SRNS) and microcephaly with brain anomalies caused by WDR73, LAGE3, OSGEP, TP53RK, TPRKB, GON7, WDR4 or NUP133 mutations. CASE PRESENTATION: We p...

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Detalles Bibliográficos
Autores principales: Chen, Yan, Yang, Yan, Yang, Yang, Rao, Jia, Bai, Haitao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9909869/
https://www.ncbi.nlm.nih.gov/pubmed/36755238
http://dx.doi.org/10.1186/s12882-022-03000-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9909869/
https://www.ncbi.nlm.nih.gov/pubmed/36755238
http://dx.doi.org/10.1186/s12882-022-03000-5

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